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https://www.readbyqxmd.com/read/28812535/associating-mutations-causing-cystinuria-with-disease-severity-with-the-aim-of-providing-precision-medicine
#1
Henry J Martell, Kathie A Wong, Juan F Martin, Ziyan Kassam, Kay Thomas, Mark N Wass
BACKGROUND: Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known to be responsible for the disease. Variants that cause the disease disrupt amino acid transport across the cell membrane, leading to the build-up of relatively insoluble cystine, resulting in formation of stones. Assessing the effects of each mutation is critical in order to provide tailored treatment options for patients...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28811687/a-preliminary-study-on-investigation-of-serum-%C3%AE-synuclein-and-tau-protein-levels-in-children-with-attention-deficit-hyperactivity%C3%A2-disorder
#2
Ihsan Cetin, Seref Simsek
Neurodegenerative molecules play an important role in maintaining a supply for synaptic vesicles; and they are also likely to help regulate the dopamine release which is the primary mechanism of action in pharmacological treatments for attention deficit hyperactivity disorder (ADHD). It is suggested that there could be interactions between α-synuclein and tau in cytoskeletal disorganization and synaptic dystrophy. Therefore, we aim to determine the serum levels of neurodegenerative molecules such as α-synuclein and tau in children with ADHD...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28810916/the-catsper-channel-and-its-roles-in-male-fertility-a-systematic-review
#3
REVIEW
Xiang-Hong Sun, Ying-Ying Zhu, Lin Wang, Hong-Ling Liu, Yong Ling, Zong-Li Li, Li-Bo Sun
The Catsper channel is a sperm-specific, Ca(2+)-permeable, pH-dependent, and low voltage-dependent channel that is essential for the hyperactivity of sperm flagellum, chemotaxis towards the egg, capacitation and acrosome reaction. All of these physiological events require calcium entry into sperm cells. Remarkably, Catsper genes are exclusively expressed in the testis during spermatogenesis, and are sensitive to ion channel-induced pH change, such as NHEs, Ca(2+)ATPase, K(+) channel, Hv1 channel and HCO3(-) transporters...
August 15, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28810342/-study-on-the-excavated-wooden-carved-acupuncture-statue-of-the-western-han-dynasty-in-laoguanshan
#4
L X Huang
The painted red lines on the wooden carved acupuncture statue of Western Han Dynasty in Laoguanshan, illustrate the running courses of the"eleven meridians"on the body surface in the early meridian doctrine. The carved white lines show the body surface running courses of the"twelve meridians"in the meridian doctrine and the Sanjiao images in Sanjiao doctrine. The dots on the wooden carved acupuncture statue are of two categories, one of them is of regulatory, round and concave spots, which are carved before the process of lacquer undercoat...
May 28, 2017: Zhonghua Yi Shi za Zhi, Chinese Journal of Medical History
https://www.readbyqxmd.com/read/28808784/the-history-of-optic-chiasm-from-antiquity-to-the-twentieth-century
#5
REVIEW
Claudia Florida Costea, Şerban Turliuc, Cătălin Buzdugă, Andrei Ionuţ Cucu, Gabriela Florenţa Dumitrescu, Anca Sava, Mihaela Dana Turliuc
PURPOSE: The optic chiasm is an essential structure located at the skull base that stirred over time the curiosity of anatomists, who became more and more interested in its structure and function. Through centuries, the optic chiasm was viewed as a vessel crossing, a way of transporting tears secreted by the brain to the eye, integrating images, or responsible for coordinated eye movements. The paper aims to overview the history of understanding the optic chiasm from the beginnings of antiquity to the twentieth century...
August 14, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28806279/ce-can-your-older-patients-drive-safely
#6
Loren Staplin, Kathy H Lococo, Tia Mastromatto, Kathy J Sifrit, Kathleen M Trazzera
A review of the functional impairments and situations that put older drivers at risk. ABSTRACT: In many areas of the world, driving is an essential part of life and for reasons of comfort, convenience, and security remains the primary mode of transportation among older adults. Both normal aging and diseases that are more prevalent in advanced age can substantially reduce older drivers' functional abilities, elevating their risk of involvement in motor vehicle accidents and serious injury or death...
August 10, 2017: American Journal of Nursing
https://www.readbyqxmd.com/read/28805464/advancing-preparedness-for-highly-hazardous-contagious-diseases-admitting-10-simulated-patients-with-mers-cov
#7
Angela Vasa, Philip W Smith, Michelle Schwedhelm, Theodore J Cieslak, John Lowe, Christopher J Kratochvil, Elizabeth L Beam, Kate Boulter, Angela Hewlett
The Ebola outbreak of 2014-2016 highlighted the need for the development of a more robust healthcare infrastructure in the United States to provide isolation care for patients infected with a highly hazardous contagious disease. Routine exercises and skills practice are required to effectively and safely prepare care teams to confidently treat this special population of patients. The Nebraska Biocontainment Unit (NBU) at Nebraska Medicine in Omaha has been conducting exercises since 2005 when the unit was opened...
August 14, 2017: Health Security
https://www.readbyqxmd.com/read/28804816/preanalytical-issues-in-hemostasis-and-thrombosis-testing
#8
Giuseppe Lippi, Emmanuel J Favaloro
Hemostasis testing is critical to many hemorrhagic and thrombotic disorders, wherein laboratory diagnostics can provide critical information for diagnosis, prognostication, and therapeutic monitoring. Due to this crucial role in modern medicine, hemostasis tests should be carried out at their highest degree of quality, thus encompassing standardization and monitoring of all phases of the testing process. It is now clearly established that the preanalytical phase is the most critical and vulnerable part of the total testing process, since up to 70% of diagnostic errors are due to highly manual activities encompassing patient preparation and collection of biological samples, as well as handling, transportation, preparation and storage of blood specimens...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28802938/impulse-control-and-related-disorders-in-parkinson-s-disease
#9
Daniel Weintraub, Daniel O Claassen
Impulse control disorders (ICDs), such as compulsive gambling, buying, sexual, and eating behaviors, are a serious and increasingly recognized complication in Parkinson's disease (PD), occurring in up to 20% of PD patients over the course of their illness. Related behaviors include punding (stereotyped, repetitive, purposeless behaviors), dopamine dysregulation syndrome (DDS) (compulsive medication overuse), and hobbyism (e.g., compulsive internet use, artistic endeavors, and writing). These disorders have a significant impact on quality of life and function, strain interpersonal relationships, and worsen caregiver burden, and are associated with significant psychiatric comorbidity...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802231/phytochemical-properties-and-pharmacological-effects-of-quercus-ilex-l-aqueous-extract-on-gastrointestinal-physiological-parameters-in-vitro-and-in-vivo
#10
Kaïs Rtibi, Imen Hammami, Slimen Selmi, Dhekra Grami, Hichem Sebai, Mohamed Amri, Lamjed Marzouki
INTRODUCTION: Several research studies have reported on the pharmacological relevance of the medicinal plants used for treating various gastrointestinal disorders and controlling the dietary glucose uptake in the intestinal tract. METHODS: Male rats were used to investigate the pharmacological effects of green oak acorn aqueous extract (GOAE) on gastrointestinal physiological parameters in vivo and in vitro. In this respect, the gastro-intestinal motility and hypersecretion essays were evaluated using a simple test meal (10% charcoal in 5% gum arabic) and castor oil induced diarrhea...
August 9, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28797192/profiling-extractable-and-leachable-inorganic-impurities-in-ophthalmic-drug-containers-by-icp-ms
#11
Paige Solomon, Jenny Nelson
In this study, we investigated the elemental impurities present in the plastic material of ophthalmic eye drop bottles using Inductively Coupled Plasma-Mass Spectrometry (ICP-MS). Metallic contaminations, especially localized within the small cavity of the eye, can significantly perturb the ocular metallome. The concern is two-fold: first certain elements, for example heavy metals, can be toxic to humans at even trace levels, and second, these contaminations can have adverse reactions with other medicines or enzymatic processes in the eye...
August 11, 2017: Pharmaceutical Development and Technology
https://www.readbyqxmd.com/read/28796151/potential-development-of-tumor-targeted-oral-anti-cancer-prodrugs-amino-acid-and-dipeptide-monoester-prodrugs-of-gemcitabine
#12
Yasuhiro Tsume, Adam J Drelich, David E Smith, Gordon L Amidon
One of the main obstacles for cancer therapies is to deliver medicines effectively to target sites. Since stroma cells are developed around tumors, chemotherapeutic agents have to go through stroma cells in order to reach tumors. As a method to improve drug delivery to the tumor site, a prodrug approach for gemcitabine was adopted. Amino acid and dipeptide monoester prodrugs of gemcitabine were synthesized and their chemical stability in buffers, resistance to thymidine phosphorylase and cytidine deaminase, antiproliferative activity, and uptake/permeability in HFF cells as a surrogate to stroma cells were determined and compared to their parent drug, gemcitabine...
August 10, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28794472/high-resolution-transport-of-intensity-quantitative-phase-microscopy-with-annular-illumination
#13
Chao Zuo, Jiasong Sun, Jiaji Li, Jialin Zhang, Anand Asundi, Qian Chen
For quantitative phase imaging (QPI) based on transport-of-intensity equation (TIE), partially coherent illumination provides speckle-free imaging, compatibility with brightfield microscopy, and transverse resolution beyond coherent diffraction limit. Unfortunately, in a conventional microscope with circular illumination aperture, partial coherence tends to diminish the phase contrast, exacerbating the inherent noise-to-resolution tradeoff in TIE imaging, resulting in strong low-frequency artifacts and compromised imaging resolution...
August 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28792742/sequential-release-of-proteins-from-structured-multishell-microcapsules
#14
Ulyana Shimanovich, Thomas C T Michaels, Erwin J de Genst, Dijana Matak-Vinkovic, Christopher M Dobson, Tuomas P J Knowles
In nature, a wide range of functional materials is based on proteins. Increasing attention is also turning to the use of proteins as artificial biomaterials in the form of films, gels, particles and fibrils that offer great potential for applications in areas ranging from molecular medicine to materials science. To date, however, most such applications have been limited to single component materials despite the fact that their natural analogues are composed of multiple types of proteins with a variety of functionalities that are co-assembled in a highly organized manner on the micron scale, a process which is currently challenging to achieve in the laboratory...
August 9, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/28791414/tetramethylpyrazine-suppresses-lipid-accumulation-in-macrophages-via-upregulation-of-the-atp-binding-cassette-transporters-and-downregulation-of-scavenger-receptors
#15
Jie Duan, Dong Xiang, Hongli Luo, Guojun Wang, Yun Ye, Chao Yu, Xiuying Li
Tetramethylpyrazine (TMP), a biologically active ingredient first extracted from the Chinese medicinal plant Ligusticum wallichii Franchat., has athero-protective activity, yet the particular mechanisms have not been completely explored. The present study was designed to investigate the effect of TMP and its possible mechanisms in RAW264.7 macrophages and apolipoprotein E-deficient (ApoE-/-) mice. TMP treatment markedly increased the cholesterol efflux and inhibited oxidized low-density lipoprotein (ox-LDL) uptake, thus, ameliorating lipid accumulation in macrophages...
August 4, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28771254/multiplex-epithelium-dysfunction-due-to-cldn10-mutation-the-helix-syndrome
#16
Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, Rachid C Maroun, Marie-Lucile Figueres, Stéphanie Leclerc-Mercier, Eric Olinger, Stéphanie Baron, Catherine Chaussain, Dominique Nochy, Rowaida Z Taha, Bertrand Knebelmann, Vandana Joshi, Patrick A Curmi, Marios Kambouris, Rosa Vargas-Poussou, Christine Bodemer, Olivier Devuyst, Pascal Houillier Md PhD, Hatem El-Shanti
PurposeWe aimed to identify the genetic cause to a clinical syndrome encompassing hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX syndrome), and to comprehensively delineate the phenotype.MethodsWe performed homozygosity mapping, whole-genome sequencing, gene sequencing, expression studies, functional tests, protein bioinformatics, and histological characterization in two unrelated families with HELIX syndrome.ResultsWe identified biallelic missense mutations (c...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28757534/triterpenoids-isolated-from-ziziphus-jujuba-enhance-glucose-uptake-activity-in-skeletal-muscle-cells
#17
Kyuichi Kawabata, Kenji Kitamura, Kazuhiro Irie, Shoma Naruse, Tomohiro Matsuura, Tomoyuki Uemae, Shu Taira, Hajime Ohigashi, Shigeru Murakami, Masakazu Takahashi, Yoko Kaido, Bunsei Kawakami
Jujube (Ziziphus jujuba Mill.), a traditional folk medicine and functional food in China and South Korea, is known for its beneficial properties, which include anti-cancer, anti-oxidative, and anti-obesity effects. To assess the anti-hyperglycemic effect of jujube in this study, we investigated the glucose uptake-promoting activity of jujube in rat L6 myotubes. After determining that the jujube extract induces muscle glucose uptake, we identified the following active compounds by bioassay-guided fractionation: betulonic acid, betulinic acid, and oleanonic acid...
2017: Journal of Nutritional Science and Vitaminology
https://www.readbyqxmd.com/read/28754949/cell-permeable-nanobodies-for-targeted-immunolabelling-and-antigen-manipulation-in-living-cells
#18
Henry D Herce, Dominik Schumacher, Anselm F L Schneider, Anne K Ludwig, Florian A Mann, Marion Fillies, Marc-André Kasper, Stefan Reinke, Eberhard Krause, Heinrich Leonhardt, M Cristina Cardoso, Christian P R Hackenberger
Functional antibody delivery in living cells would enable the labelling and manipulation of intracellular antigens, which constitutes a long-thought goal in cell biology and medicine. Here we present a modular strategy to create functional cell-permeable nanobodies capable of targeted labelling and manipulation of intracellular antigens in living cells. The cell-permeable nanobodies are formed by the site-specific attachment of intracellularly stable (or cleavable) cyclic arginine-rich cell-penetrating peptides to camelid-derived single-chain VHH antibody fragments...
August 2017: Nature Chemistry
https://www.readbyqxmd.com/read/28751917/artificial-mitochondria-transfer-current-challenges-advances-and-future-applications
#19
REVIEW
Andrés Caicedo, Pedro M Aponte, Francisco Cabrera, Carmen Hidalgo, Maroun Khoury
The objective of this review is to outline existing artificial mitochondria transfer techniques and to describe the future steps necessary to develop new therapeutic applications in medicine. Inspired by the symbiotic origin of mitochondria and by the cell's capacity to transfer these organelles to damaged neighbors, many researchers have developed procedures to artificially transfer mitochondria from one cell to another. The techniques currently in use today range from simple coincubations of isolated mitochondria and recipient cells to the use of physical approaches to induce integration...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28750602/mechanical-induction-of-bi-directional-orientation-of-primary-porcine-bladder-smooth-muscle-cells-in-tubular-fibrin-poly-vinylidene-fluoride-scaffolds-for-ureteral-and-urethral-repair-using-cyclic-and-focal-balloon-catheter-stimulation
#20
Volker Seifarth, Joachim O Grosse, Matthias Gossmann, Heinz Peter Janke, Patrick Arndt, Sabine Koch, Matthias Epple, Gerhard M Artmann, Aysegül Temiz Artmann
To restore damaged organ function or to investigate organ mechanisms, it is necessary to prepare replicates that follow the biological role model as faithfully as possible. The interdisciplinary field of tissue engineering has great potential in regenerative medicine and might overcome negative side effects in the replacement of damaged organs. In particular, tubular organ structures of the genitourinary tract, such as the ureter and urethra, are challenging because of their complexity and special milieu that gives rise to incrustation, inflammation and stricture formation...
January 1, 2017: Journal of Biomaterials Applications
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